Torsin A

TOR1A
Identifiers
Aliases	TOR1A, DQ2, DYT1, Torsin A, torsin family 1 member A, AMC5
External IDs	OMIM: 605204 MGI: 1353568 HomoloGene: 37263 GeneCards: TOR1A
Gene location (Human) Chr. Chromosome 9 (human) Band 9q34.11 Start 129,812,942 bp End 129,824,244 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 B Start 30,850,639 bp End 30,857,945 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium secondary oocyte monocyte endothelial cell smooth muscle tissue blood left adrenal gland gallbladder rectum islet of Langerhans Top expressed in secondary oocyte renal corpuscle yolk sac medullary collecting duct proximal tubule neural tube duodenum liver endocardial cushion saccule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding unfolded protein binding misfolded protein binding cytoskeletal protein binding ATPase activity protein binding kinesin binding hydrolase activity ATP binding Cellular component cytoplasm cell projection endoplasmic reticulum lumen nuclear envelope membrane synaptic vesicle growth cone synapse secretory granule transport vesicle cell junction extrinsic component of endoplasmic reticulum membrane endoplasmic reticulum neuron projection cytoskeleton cytoplasmic vesicle membrane extracellular exosome cytoplasmic vesicle nucleus cytosol nuclear membrane intracellular membrane-bounded organelle Biological process regulation of dopamine uptake involved in synaptic transmission regulation of protein localization to cell surface nuclear envelope organization ER-associated misfolded protein catabolic process response to oxidative stress organelle organization chaperone cofactor-dependent protein refolding cell adhesion nuclear membrane organization positive regulation of synaptic vesicle endocytosis intermediate filament cytoskeleton organization protein localization to nucleus synaptic vesicle transport protein deneddylation neuron projection development protein homooligomerization wound healing, spreading of cells chaperone-mediated protein folding Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1861 30931 Ensembl ENSG00000136827 ENSMUSG00000026849 UniProt O14656 Q9ER39 RefSeq (mRNA) NM_000113 NM_144884 RefSeq (protein) NP_000104 NP_659133 Location (UCSC) Chr 9: 129.81 – 129.82 Mb Chr 2: 30.85 – 30.86 Mb PubMed search
Wikidata
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Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the TOR1A gene (also known as DQ2 or DYT1). TorA localizes to the endoplasmic reticulum and contiguous perinuclear space, where its ATPase activity is activated by either LULL1 or LAP1, respectively.

Function

The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family.

Clinical significance

Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.

Further reading

• Ozelius LJ, Hewett JW, Page CE, et al. (1998). "The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family". Advances in Neurology. 78: 93–105. PMID 9750906.
• Ferrari Toninelli G, Spano P, Memo M (2003). "TorsinA, microtubules and cell polarity". Funct. Neurol. 18 (1): 7–10. PMID 12760408.
• Rothwell JC, Edwards M, Huang YZ, Bhatia KP (2004). "Physiological studies in carriers of the DYT1 gene mutation". Rev. Neurol. (Paris). 159 (10 Pt 1): 880–4. PMID 14615676.
• Ozelius LJ, Hewett JW, Page CE, et al. (1997). "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein". Nat. Genet. 17 (1): 40–8. doi:10.1038/ng0997-40. PMID 9288096. S2CID 29095964.
• Augood SJ, Penney JB, Friberg IK, et al. (1998). "Expression of the early-onset torsion dystonia gene (DYT1) in human brain". Ann. Neurol. 43 (5): 669–73. doi:10.1002/ana.410430518. PMID 9585364. S2CID 30238231.
• Kamm C, Castelon-Konkiewitz E, Naumann M, et al. (1999). "GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany". Mov. Disord. 14 (4): 681–3. doi:10.1002/1531-8257(199907)14:4<681::AID-MDS1020>3.0.CO;2-M. PMID 10435508. S2CID 20194006.
• Ikeuchi T, Shimohata T, Nakano R, et al. (1999). "A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation". Neurogenetics. 2 (3): 189–90. doi:10.1007/s100480050082. PMID 10541594. S2CID 27834129.
• Shashidharan P, Kramer BC, Walker RH, et al. (2000). "Immunohistochemical localization and distribution of torsinA in normal human and rat brain". Brain Res. 853 (2): 197–206. doi:10.1016/S0006-8993(99)02232-5. PMID 10640617. S2CID 7112316.
• Hewett J, Gonzalez-Agosti C, Slater D, et al. (2000). "Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells". Hum. Mol. Genet. 9 (9): 1403–13. doi:10.1093/hmg/9.9.1403. PMID 10814722.
• Kustedjo K, Bracey MH, Cravatt BF (2000). "Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations". J. Biol. Chem. 275 (36): 27933–9. doi:10.1074/jbc.M910025199. PMID 10871631.
• Suzuki Y, Tsunoda T, Sese J, et al. (2001). "Identification and characterization of the potential promoter regions of 1031 kinds of human genes". Genome Res. 11 (5): 677–84. doi:10.1101/gr.gr-1640r. PMC 311086. PMID 11337467.
• Konakova M, Huynh DP, Yong W, Pulst SM (2001). "Cellular distribution of torsin A and torsin B in normal human brain". Arch. Neurol. 58 (6): 921–7. doi:10.1001/archneur.58.6.921. PMID 11405807.
• Sharma N, Hewett J, Ozelius LJ, et al. (2001). "A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study". Am. J. Pathol. 159 (1): 339–44. doi:10.1016/s0002-9440(10)61700-2. PMC 1850427. PMID 11438481.
• Leung JC, Klein C, Friedman J, et al. (2002). "Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism". Neurogenetics. 3 (3): 133–43. doi:10.1007/s100480100111. PMID 11523564. S2CID 11713438.
• Tuffery-Giraud S, Cavalier L, Roubertie A, et al. (2002). "No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia". J. Med. Genet. 38 (10): 35e–35. doi:10.1136/jmg.38.10.e35. PMC 1734733. PMID 11584049.
• Major T, Svetel M, Romac S, Kostić VS (2002). "DYT1 mutation in primary torsion dystonia in a Serbian population". J. Neurol. 248 (11): 940–3. doi:10.1007/s004150170045. PMID 11757956. S2CID 10128440.
• Walker RH, Morgello S, Davidoff-Feldman B, et al. (2002). "Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions". Neurology. 58 (7): 1031–7. doi:10.1212/wnl.58.7.1031. PMID 11940688. S2CID 38388934.
• Hjermind LE, Werdelin LM, Sørensen SA (2002). "Inherited and de novo mutations in sporadic cases of DYT1-dystonia". Eur. J. Hum. Genet. 10 (3): 213–6. doi:10.1038/sj.ejhg.5200782. PMID 11973627.

External links

• GeneReview/NIH/UW entry on Early-Onset Primary Dystonia

This article incorporates text from the United States National Library of Medicine, which is in the public domain.